Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
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Takahashi T, Desnick RJ, Takada G, Schuchman EH
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
Hum Mutat. 1992;1(1):70-1.
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- 1301192 [ View in PubMed]
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